More information:
Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, a membrane-bound copper-transporting ATPase. Clinical manifestations are caused by copper toxicity and primarily involve the liver and the brain. Because effective treatment is available, it is important to make this diagnosis early
The main problems faced by patients suffering from Wilson’s disease in Bulgaria are: delay in diagnosis; lack of information about the characteristics of the disease among both health professionals and patients themselves and their relatives; lack of modern and effective medications for the treatment of Wilson disease. Bulgarian Association Wilson’s Disease (BAWD) is a non-party, voluntary, independent association of people suffering from Wilson’s disease and their families.
The main objectives of BAWD are: protection of the rights of people with Wilson’s disease to receive free, timely, adequate and quality care; to unite, inform and encourage people with Wilson’s disease and their families; to support integration of patients with Wilson’s disease to society and overcoming the emotional consequences of the disease; to promote professional qualification and training of researchers and medics in the field, related to diagnosis, treatment and rehabilitation of persons suffering from Wilson’s disease.